List of variants reported as uncertain significance for intrahepatic cholestasis by Fulgent Genetics, Fulgent Genetics

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)	rs142794414	0.00123
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu)	rs56355310	0.00095
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)	rs8187788	0.00074
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)	rs139042803	0.00044
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	rs199761505	0.00034
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val)	rs138943609	0.00026
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)	rs200148505	0.00024
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)	rs200870815	0.00023
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)	rs139276234	0.00022
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)	rs139636763	0.00015
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)	rs201366118	0.00014
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)	rs539087982	0.00012
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)	rs371965391	0.00011
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln)	rs200488448	0.00010
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)	rs11568370	0.00009
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val)	rs372886308	0.00007
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)	rs201800225	0.00006
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)	rs553076953	0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)	rs746223152	0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)	rs142684074	0.00004
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)	rs201144827	0.00003
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His)	rs530758620	0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)	rs144656719	0.00002
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser)	rs1315323909	0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val)	rs1555689790	0.00001
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)	rs371091982	0.00001
NM_000443.4(ABCB4):c.-18G>T	rs886062461
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)	rs727504461

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